ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5603_5604insCGA (p.Asp1871dup)

dbSNP: rs1554086829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567182 SCV000667606 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-07 criteria provided, single submitter clinical testing The c.5603_5604insCGA variant (also known as p.D1871dup), located in coding exon 15 of the APC gene, results from an in-frame CGA insertion at nucleotide positions 5603 to 5604. This results in the insertion of an extra aspartic acid residue between codons 1871 and 1871. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003744551 SCV003231210 uncertain significance Familial adenomatous polyposis 1 2022-09-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant, c.5603_5604insCGA, results in the insertion of 1 amino acid(s) of the APC protein (p.Asp1871dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with APC-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 482382).

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